Mitochondrial uncoupling protein 2 (UCP2) gene polymorphism - 866 G/A in the promoter region is associated with type 2 diabetes mellitus among Kashmiri population of Northern India
© 2022. The Author(s), under exclusive licence to Springer Nature B.V..
OBJECTIVE: The study aimed to evaluate the association of UCP2 gene polymorphism - 866 G/A and its expression with diabetes predisposition in the North Indian population.
METHODS: The study involved 850 subjects, including 425 each T2DM and control subjects. The serum metabolic and clinical parameters were estimated using standard protocols. The PCR-RFLP based genotyping was performed to determine UCP2 gene polymorphism, while the expression was measured by real-time quantitative PCR.
RESULTS: The genotypic and allelic frequencies showed a significant difference in cases compared to controls (p < 0.05). The diabetes patients had a 4.2-fold decrease in UCP2 gene expression. The expression was 29.8 and 8.4 fold lower in diabetes patients with homozygous (AA) and heterozygous (GA) mutation at - 866 locus of UCP2 nucleotide sequence, respectively. When categorized according to age and BMI, the T2DM subjects with age ≥ 50 and BMI ≥ 25 had a 5.53 and 8.2-fold decrease in UCP2 expression, respectively. The diabetes subjects with homozygous and heterozygous mutation demonstrated a pathological increase in serum metabolic and clinical parameters, which corroborated with UCP2 gene expression, indicating a strong association between the two. Intriguingly, we did not find any association between - 866 G/A polymorphism of UCP2 with serum insulin levels.
CONCLUSION: Our investigation is the first among the studies conducted in Jammu and Kashmir to work on adipose tissue and UCP2 gene polymorphism. The association of - 866 G/A SNP of the UCP2 gene with its expression in diabetes patients appears to be an important genetic determinant in the progression of T2DM. Moreover, age ≥ 50 years and BMI ≥ 25 could be considered risk factors for developing T2DM in the studied population.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:50 |
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| Enthalten in: |
Molecular biology reports - 50(2023), 1 vom: 08. Jan., Seite 475-483 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Din, Inshah [VerfasserIn] |
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| Links: |
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| Themen: |
Diabetes |
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| Anmerkungen: |
Date Completed 31.01.2023 Date Revised 02.02.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s11033-022-08055-z |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM348602499 |
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| 245 | 1 | 0 | |a Mitochondrial uncoupling protein 2 (UCP2) gene polymorphism - 866 G/A in the promoter region is associated with type 2 diabetes mellitus among Kashmiri population of Northern India |
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| 500 | |a Date Revised 02.02.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2022. The Author(s), under exclusive licence to Springer Nature B.V. | ||
| 520 | |a OBJECTIVE: The study aimed to evaluate the association of UCP2 gene polymorphism - 866 G/A and its expression with diabetes predisposition in the North Indian population | ||
| 520 | |a METHODS: The study involved 850 subjects, including 425 each T2DM and control subjects. The serum metabolic and clinical parameters were estimated using standard protocols. The PCR-RFLP based genotyping was performed to determine UCP2 gene polymorphism, while the expression was measured by real-time quantitative PCR | ||
| 520 | |a RESULTS: The genotypic and allelic frequencies showed a significant difference in cases compared to controls (p < 0.05). The diabetes patients had a 4.2-fold decrease in UCP2 gene expression. The expression was 29.8 and 8.4 fold lower in diabetes patients with homozygous (AA) and heterozygous (GA) mutation at - 866 locus of UCP2 nucleotide sequence, respectively. When categorized according to age and BMI, the T2DM subjects with age ≥ 50 and BMI ≥ 25 had a 5.53 and 8.2-fold decrease in UCP2 expression, respectively. The diabetes subjects with homozygous and heterozygous mutation demonstrated a pathological increase in serum metabolic and clinical parameters, which corroborated with UCP2 gene expression, indicating a strong association between the two. Intriguingly, we did not find any association between - 866 G/A polymorphism of UCP2 with serum insulin levels | ||
| 520 | |a CONCLUSION: Our investigation is the first among the studies conducted in Jammu and Kashmir to work on adipose tissue and UCP2 gene polymorphism. The association of - 866 G/A SNP of the UCP2 gene with its expression in diabetes patients appears to be an important genetic determinant in the progression of T2DM. Moreover, age ≥ 50 years and BMI ≥ 25 could be considered risk factors for developing T2DM in the studied population | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Diabetes | |
| 650 | 4 | |a Homozygous mutation | |
| 650 | 4 | |a India | |
| 650 | 4 | |a Kashmiri population | |
| 650 | 4 | |a Obesity | |
| 650 | 4 | |a UCP2 | |
| 650 | 7 | |a Uncoupling Protein 2 |2 NLM | |
| 650 | 7 | |a Ion Channels |2 NLM | |
| 650 | 7 | |a Mitochondrial Proteins |2 NLM | |
| 650 | 7 | |a UCP2 protein, human |2 NLM | |
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| 700 | 1 | |a Rashid, Fouzia |e verfasserin |4 aut | |
| 700 | 1 | |a Wani, Mumtaz Din |e verfasserin |4 aut | |
| 700 | 1 | |a Qadir, Jasiya |e verfasserin |4 aut | |
| 700 | 1 | |a Wani, Hilal |e verfasserin |4 aut | |
| 700 | 1 | |a Fareed, Mohd |e verfasserin |4 aut | |
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